Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who p...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2011/784259 |
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| author | Mihir Kothari Florence Manurung Bhavesh Mithiya |
| author_facet | Mihir Kothari Florence Manurung Bhavesh Mithiya |
| author_sort | Mihir Kothari |
| collection | DOAJ |
| description | Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental. |
| format | Article |
| id | doaj-art-1bbf9055a4f54ecf86888bd422535416 |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-1bbf9055a4f54ecf86888bd4225354162025-02-03T01:29:08ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302011-01-01201110.1155/2011/784259784259Simultaneous Occurrence of Duane Retraction Syndrome with Marfan SyndromeMihir Kothari0Florence Manurung1Bhavesh Mithiya2Department of Pediatric Ophthalmology and Strabismus, Aditya Jyot Eye Hospital, Mumbai 400 031, IndiaDepartment of Pediatric Ophthalmology and Strabismus, Aditya Jyot Eye Hospital, Mumbai 400 031, IndiaDepartment of Pediatrics and Department of Pediatric Ophthalmology, Jupiter Hospital, Thane 400 601, IndiaMarfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.http://dx.doi.org/10.1155/2011/784259 |
| spellingShingle | Mihir Kothari Florence Manurung Bhavesh Mithiya Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome Case Reports in Ophthalmological Medicine |
| title | Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome |
| title_full | Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome |
| title_fullStr | Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome |
| title_full_unstemmed | Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome |
| title_short | Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome |
| title_sort | simultaneous occurrence of duane retraction syndrome with marfan syndrome |
| url | http://dx.doi.org/10.1155/2011/784259 |
| work_keys_str_mv | AT mihirkothari simultaneousoccurrenceofduaneretractionsyndromewithmarfansyndrome AT florencemanurung simultaneousoccurrenceofduaneretractionsyndromewithmarfansyndrome AT bhaveshmithiya simultaneousoccurrenceofduaneretractionsyndromewithmarfansyndrome |